Discovery of gene that modifies severity of inherited kidney disease Published on: 9 January 2020 Scientists have developed a way to understand complex genetic diseases and have identified a gene that modifies the severity of inherited kidney disease, paving the way for personalised treatments. Experts at 缅北禁地 have shown that the rate of kidney disease in people with Joubert syndrome is determined by the genetic makeup of the individual and each patient may respond differently to treatment. Joubert syndrome is a complex disorder, affecting approximately one in 80,000 newborns, causing varying degrees of physical, mental and sometimes visual impairments. It is often associated with severe kidney disease that requires dialysis and ultimately transplantation. The study, published online in the , is the first time that an explanation has been given for the difference of disease progression in Joubert syndrome patients. Significant breakthrough The 缅北禁地 research has identified a second gene called BSND – a ‘modifier gene’ - which determines the severity of kidney disease in patients with CEP290 mutations of Joubert syndrome. It has been assumed that these modifier genes exist, but they have never been found before in rare genetic conditions until now. Professor John Sayer and Dr Colin Miles, from the Translational and Clinical Research Institute, 缅北禁地, led the Medical Research Council-funded research. Professor Sayer said: “We have shown, using mouse and human DNA samples, that BSND is a modifier gene for the severity of kidney disease in Joubert syndrome. “This is the first time that a modifier gene for inherited kidney disease has been identified, and this information will improve diagnoses and will be used to develop therapies to reduce the severity of kidney disease in affected patients. “Our research is a major step forwards and, in the future, we may be able to offer a therapy that switches on the protective modifier gene and reduces the development of genetic kidney disease. “This work paves the way towards personalised therapies in patients with the inherited kidney disease.” The international study used mouse models and DNA samples from patients with Joubert syndrome to progress the research. Scientists used mouse models of disease and genetic manipulation to see how the kidney disease responded to modifier gene manipulation, cross-referenced with DNA sequencing data from patients around the world to prove the modifier gene was relevant in humans. Challenging disease Professor Sayer, a Consultant Nephrologist at , said: “The treatment of genetic kidney disease is challenging, as this requires both the correction of the underlying gene defect and the delivery of the treatment. “We have shown that the kidney disease in a mouse can be dramatically changed by switching on or off a modifier gene. “This will mean that we can use this information to carry out treatments, including genetic therapies, to lessen the effects of inherited kidney diseases, such as Joubert syndrome. “We are testing these treatments further in our model systems before we move into patient studies.” Within the next three years, research will start to test treatment of patients with modifier genes in the hope of developing personalised treatment plans. Patient story Siblings Emma, 11, and Ben Buckley, eight, have Joubert syndrome and both developed kidney failure before the age of eight. They were diagnosed with Joubert syndrome from a few months of age and both have required dialysis and a kidney transplant. They suffer from a range of medical issues due to Joubert syndrome, including visual impairment, communication problems and developmental delay. The two children, of Whitley Bay, North Tyneside, have been instrumental in helping further the research over the years, allowing the 缅北禁地 scientists to study the mutation in detail. Parents Leanne and Michael say they welcome the findings of the 缅北禁地-led study as it will help to give patients a chance of preventing kidney failure in the future. Leanne said: “It is very important that research is done into Joubert syndrome and the linked kidney damage, as this will hopefully prevent patients in the future needing a kidney transplant. “All throughout Ben and Emma’s lives, they have lived with the effects of Joubert syndrome and scientists found they had a problem with the CEP290 gene. “Both Ben and Emma have needed dialysis and kidney transplants because of their kidney problems and I would like to hope this research will help prevent kidney failure for other affected children. “We were happy for Ben and Emma to provide samples for the study as anything that helps further understanding into the condition is well worth doing, so it’s great to see the study’s positive results.” Reference Simon Ramsbottom et al. Proceedings of the National Academy of Sciences. Doi:10.1073/pnas.1912602117/-/DCSupplemental (L-R) Ben and Emma Buckley Share: Latest News 缅北禁地 recognised with geography award 缅北禁地 has been awarded the Highly Commended Geographical Association Publishers Award for its collaboration with Time for Geography, the UK鈥檚 open-access, dedicated video platform. published on: 16 April 2026 缅北禁地 historians mark General Strike centenary To mark the 100th anniversary of the British General Strike and miners鈥� lock-out of 1926, historians at 缅北禁地 are organising a series of events on its enduring legacy. published on: 16 April 2026 Comment: NCP is in administration Writing for The Conversation, Erwei (David) Xiang discusses how some big companies like NCP are so dependent on debt that they can鈥檛 adjust to change. published on: 16 April 2026 Facts and figures
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